Fine mapping of chromosome 15q25 implicates ZNF592 in neurosarcoidosis patients

Neurosarcoidosis is a clinical subtype of sarcoidosis characterized by the presence of granulomas in the nervous system. Here, we report a highly significant association with a variant (rs75652600, P = 3.12 × 10(−8), odds ratios = 4.34) within a zinc finger gene, ZNF592, from an imputation-based fin...

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Autores principales: Lareau, Caleb A, Adrianto, Indra, Levin, Albert M, Iannuzzi, Michael C, Rybicki, Benjamin A, Montgomery, Courtney G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4603380/
https://www.ncbi.nlm.nih.gov/pubmed/26478897
http://dx.doi.org/10.1002/acn3.229
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author Lareau, Caleb A
Adrianto, Indra
Levin, Albert M
Iannuzzi, Michael C
Rybicki, Benjamin A
Montgomery, Courtney G
author_facet Lareau, Caleb A
Adrianto, Indra
Levin, Albert M
Iannuzzi, Michael C
Rybicki, Benjamin A
Montgomery, Courtney G
author_sort Lareau, Caleb A
collection PubMed
description Neurosarcoidosis is a clinical subtype of sarcoidosis characterized by the presence of granulomas in the nervous system. Here, we report a highly significant association with a variant (rs75652600, P = 3.12 × 10(−8), odds ratios = 4.34) within a zinc finger gene, ZNF592, from an imputation-based fine-mapping study of the chromosomal region 15q25 in African-Americans with neurosarcoidosis. We validate the association with ZNF592, a gene previously shown to cause cerebellar ataxia, in a cohort of European-Americans with neurosarcoidosis by uncovering low-frequency variants with a similar risk effect size (chr15:85309284, P = 0.0021, odds ratios = 5.36).
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spelling pubmed-46033802015-10-16 Fine mapping of chromosome 15q25 implicates ZNF592 in neurosarcoidosis patients Lareau, Caleb A Adrianto, Indra Levin, Albert M Iannuzzi, Michael C Rybicki, Benjamin A Montgomery, Courtney G Ann Clin Transl Neurol Brief Communications Neurosarcoidosis is a clinical subtype of sarcoidosis characterized by the presence of granulomas in the nervous system. Here, we report a highly significant association with a variant (rs75652600, P = 3.12 × 10(−8), odds ratios = 4.34) within a zinc finger gene, ZNF592, from an imputation-based fine-mapping study of the chromosomal region 15q25 in African-Americans with neurosarcoidosis. We validate the association with ZNF592, a gene previously shown to cause cerebellar ataxia, in a cohort of European-Americans with neurosarcoidosis by uncovering low-frequency variants with a similar risk effect size (chr15:85309284, P = 0.0021, odds ratios = 5.36). John Wiley & Sons, Ltd 2015-10 2015-07-31 /pmc/articles/PMC4603380/ /pubmed/26478897 http://dx.doi.org/10.1002/acn3.229 Text en © 2015 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
spellingShingle Brief Communications
Lareau, Caleb A
Adrianto, Indra
Levin, Albert M
Iannuzzi, Michael C
Rybicki, Benjamin A
Montgomery, Courtney G
Fine mapping of chromosome 15q25 implicates ZNF592 in neurosarcoidosis patients
title Fine mapping of chromosome 15q25 implicates ZNF592 in neurosarcoidosis patients
title_full Fine mapping of chromosome 15q25 implicates ZNF592 in neurosarcoidosis patients
title_fullStr Fine mapping of chromosome 15q25 implicates ZNF592 in neurosarcoidosis patients
title_full_unstemmed Fine mapping of chromosome 15q25 implicates ZNF592 in neurosarcoidosis patients
title_short Fine mapping of chromosome 15q25 implicates ZNF592 in neurosarcoidosis patients
title_sort fine mapping of chromosome 15q25 implicates znf592 in neurosarcoidosis patients
topic Brief Communications
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4603380/
https://www.ncbi.nlm.nih.gov/pubmed/26478897
http://dx.doi.org/10.1002/acn3.229
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